ClinVar Miner

List of variants in gene MANBA reported as likely benign by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_005908.4(MANBA):c.1870-92A>G rs2293995 0.04979
NM_005908.4(MANBA):c.2014+69A>G rs76778895 0.01937
NM_005908.4(MANBA):c.1230+153G>A rs227362 0.01902
NM_005908.4(MANBA):c.2014+75C>T rs111700303 0.01877
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01449
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_005908.4(MANBA):c.1231-58T>C rs60957290 0.01145
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_005908.4(MANBA):c.2014+53G>C rs150220143 0.00940
NM_005908.4(MANBA):c.1230+144A>T rs60581775 0.00933
NM_005908.4(MANBA):c.960+108A>T rs78612967 0.00919
NM_005908.4(MANBA):c.273-62A>G rs114897852 0.00675
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_005908.4(MANBA):c.478C>T (p.Arg160Cys) rs114543305 0.00238
NM_005908.4(MANBA):c.1705-13C>T rs34754408

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